THE SHORT OF IT A Practical Approach to Short Stature
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1 THE SHORT OF IT A Practical Approach to Short Stature Paul Hofman 2009
2 Why bother? 3% of people will always be below the third percentile! In the vast majority of cases there is no medical problem And yet People complain of being short even when normal e.g. on the 25 th percentile There is great anxiety among many families with short children especially where the parents are also short.
3 Is being vertically challenged a handicap? SHORT STATURE and Society Tall stature is valued perhaps even more in shorter societies! Males are taller than women in general and historically in most societies hold power. Ruling classes possibly due to better nutrition and genetic selection are taller. Thus height has become associated with power, intelligence and dominance. In the USA height has been named as near top of the list in traits people value when choosing a mate
4 Heightism is as more prevalent than racism! Short people are often the butt of jokes (look online at some of the websites!) Many positive comments associated with tall stature look up to stand tall holding in high regard Whereas there are negative associations with small size talking down possessing short-comings short man syndrome
5 Heightism There is no denying that we place a high premium on height, be it social, sexual, or economic, and our preference for height pervades almost every aspect of our lives. Heightism is "one of the most blatant and forgiven prejudices in our society." Economist John Kenneth Galbraith (height 6 8 ) essay titled My Inner Shrimp by Gary Trudeau creator of Doonesbury for the rest of my days I will be a recovering short person. His final height was over 184cm but was very short as a child.
6 The long term cost of short stature For some short stature has a profound effect even when they are not substantially small. Some have published books on their experiences. Two very worthwhile books to read Beyond Measure: A Memoir About Short Stature and Inner Growth by Ellen Frankel Size matters: How Height Affects the Health, Happiness and Success of Boys - and the Men They Become by Stephen S Hall.
7 Short stature long term sequelae Despite the clear prejudice against small stature are there negative consequences for the individual? Much of the justification for height promoting therapies is based on the studies demonstrating long term negative psychological outcomes for short children. However these studies are often biased and focus on selected subjects. Many recent studies have demonstrated no clear psychological changes solely due to reduced height.
8 Empirical status of stature-related stereotypes STEREOTYPE EVIDENCE Children and adults with SS are more poorly adjusted psychologically Children and adults with SS are treated poorly due to their stature Short men are less attractive and desirable to women as dates or husbands Generally supported by analogue based research. Not supported by general population or clinic based studies Mixed results from analogue studies. Evidence of teasing and juvenilization from clinic based studies. Generally supported by analogue research. Limited support in population studies: effect attenuated when controlling for confounding variables.
9 Empirical status of stature-related stereotypes STEREOTYPE EVIDENCE Children and adults with SS do less well at school/ are less intelligent Adults with SS hold lower status occupations and are paid less. Generally supported by analogue studies. Not supported by general population or clinic based studies of children or adults. Supported by analogue studies. Limited support in population based studies: effect attenuated when controlling for confounding variables.
10 Pathological Short Stature Short stature or even more sensitive, poor growth velocity can reflect underlying pathology. Linear growth is extremely sensitive to any alteration in either the external or internal environment. Poor growth is therefore a very sensitive, objective parameter indicating an underlying problem but it is not very specific.
11 Short Stature Definitions Short Stature is defined arbitrarily as a height less than the 3rd PC Dwarfism is defined as height less than 3 S.D. below the mean (0.5 PC)
12 Short Stature Definitions Relevance Growth Hormone Therapy in NZ is available for children with GH deficiency Turner Syndrome (Growth velocity <25 th PC) Renal Failure (Growth velocity <25th PC, Height <3 rd PC) Prader Willi Syndrome (Growth velocity <25th PC) Severe Short Stature (Height <-3 SD and growth velocity <25 th PC)
13 Short Stature vs Failure to Thrive Failure to thrive is defined as failure to gain adequate weight which can lead to a secondary failure in height growth. Important to identify as the aetiologies are very different to short stature.
14 SHORT STATURE Common perceived problem in the community and most common referral to paediatric endocrinologists. Boys referred >> girls 95+% of short stature is NORMAL VARIANT IT IS ESSENTIAL FOR DOCTORS DEALING WITH CHILDREN TO UNDERSTAND NORMAL VARIANT GROWTH AND ARE DISTINGUISH THIS FROM PATHOLOGICAL CAUSES.
15 SHORT STATURE Awareness! To identify short stature you have to 1) MEASURE the patient have an accurate stadiometer firm base rigid measuring bar standard length rod for checking height consistency know how to measure reliably and consistently no shoes straight legs no tip toeing/ slouching face in neutral plane with slight traction
16 SHORT STATURE Awareness! 2) PLOT the data! No one can accurately assess short stature by eyeballing a child. Appropriate growth charts are needed. These available free on the APEG website (Australasian Paediatric Endocrine Group) under clinical resources. Looking at growth patterns is more useful than one point ie measure and plot all children at least annually if possible.
17 Girls 2-18 year Growth Charts
18 Girls 2-18 year Growth Charts
19 Normal Growth REQUIREMENTS for growth/ anabolism Nurturing, caring environment Adequate nutritional supply and the ability to digest and absorb the food (ie the child should be well nourished) Appropriate hormonal milieu Appropriate extracellular and intracellular environment.
20 Normal Variant Growth- Constitutional Delay of Growth and Development Child s height is well below that expected from the mid parental height. Growth velocity is normal (ie >25th %ile) Normal birth weight Family hx of pubertal delay and late growth common. Bone age delayed (although usually not more than 2 years) Final adult height normal (usually close to mid parental height)
21 Normal Variant Growth- Constitutional Delay of Growth and Development Characteristic history is normal growth for the first 6-9 months after which they cross percentiles downwards for 6-12 months. They then grow parallel to this percentile until late childhood. Puberty is entered late with a corresponding delay in epiphyseal fusion and consequently extra growth.
22 Constitutional Delay of Growth and Development MPH
23 Normal Variant Growth- Familial Short Stature Short parents (beware one short parent - can represent a dominant genetic problem). Normal growth velocity (ie >25th PC) Normal birth weight Bone age appropriate for chronological age. Final height consistent with mid parental height. Typically these children grow down to there height percentile over the first 6 months after birth and then grow along and parallel to this percentile.
24 Familial Short Stature MPH
25 Short Stature - Classification Large number of causes All pathological causes of short stature will cause a poor growth velocity (<25 th PC) and a crossing of percentiles downwards on a growth chart.
26 Short Stature - Classification Proportionate (ie leg length to body length and arm span are normal) Disproportionate (shortening of either limbs or trunk) Almost always due to a skeletal dysplasia (eg hypo and achondroplasia) A large no. of conditions, which combined are still uncommon. Define by measuring armspan (= height±5cm) or sitting height (easier to measure and charts readily available)
27 Post Natal Normal Variant Short Stature - Proportionate Pathological Nutritional (starvation commonest cause of SS worldwide) Metabolic esp metabolic acidosis Chronic Illness ie renal, cardiac, GI, respiratory, neurological. Severe neglect can cause psychosocial dwarfism Chronic Drug Intake mainly glucocorticoid tx.
28 Short Stature - Proportionate Prenatal Intrauterine Growth Retardation uteroplacental insufficiency congenital infection syndromal Chromosomal (Turner syndrome (XO) commonest cause of pathological SS in girls (1:2000 female births - always consider in girls!) Antenatal Drug abuse (esp. alcohol)
29 Short Stature - History Growth pattern Antenatal history and birth weight Hx of any chronic illness/ head trauma or medication Hx of malnutrition/ neglect Family Hx Mid-parental height (Mother s ht + Father s ht ± 13cm) 2 95% confidence intervals are ± 8cm Hx of delayed puberty
30 Short Stature - Examination Measure and plot height (plus other previous measurements if available) Limb asymmetry/disproportion Pubertal Status Dysmorphism Neurocutaneous stigmata Evidence of organ system disease
31 Short Stature - Investigation Standard Investigation BONE AGE (skeletal survey occ. required if a skeletal dysplasia is suspected) If there is an abnormal growth pattern (measurements at least 4 months apart (preferably 6-12 months apart). Thyroid function tests FBC + ESR U+Es, Creatinine, (LFTs) Urinalysis/ ph Karyotype (girls) Coeliac screen (faecal spec/ LFTs/ capillary blood gas)
32 Short Stature - Investigation If growth failure persists refer to a paediatrican/ endocrinologist
33 Short Stature - Diagnosis A pathological growth pattern can be established from growth data, if necessary taken over a 4-12 month period. Plotting previous growth data will often help establish the length of time the problem has been present. A normal growth velocity over a 12 month period virtually excludes a pathological cause for short stature.
34 Treatment Options 1) Remove underlying cause for the growth failure if identified (eg inhaled steroids) 2) Growth hormone (only proven growth promoter). Specialist only and restricted use by PHARMAC. 3) Tamoxifen/ antioestrogen (in peripubertal boys). Blocks epiphyseal fusion. Early data looks promising but no final height data. Should be specialist only. 4) Testosterone inducing puberty in severely constitutionally delayed boys. Doesn t increase height but gets them there more quickly. Specialist only.
35 Summary 1) Measure and plot children at least annually 2) A normal growth velocity essentially excludes significant pathology. 3) Always calculate the midparental height and ask about a history of pubertal timing. 4) A bone age is the only must do investigation. Waiting until you can calculate a growth velocity before doing other tests is otherwise appropriate. 5) In short girls growing poorly ALWAYS do a karyotype.
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